Canonical Allele Identifier: CA2692330701

Gene: ABO

Linked Data

• gnomAD v4: 9-133257952-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257952G>A , CM000671.2:g.133257952G>A	GRCh38
NC_000009.11:g.136133339G>A , CM000671.1:g.136133339G>A	GRCh37
NC_000009.10:g.135123160G>A	NCBI36
NG_006669.1:g.19715C>T
NG_006669.2:g.22263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.269+145C>T
ENST00000647353.1:n.54-6800C>T
ENST00000651471.1:n.329+90C>T
ENST00000679909.1:c.28+17210C>T	ENSP00000506089.1:n.28+17210C>T
ENST00000453660.3:n.251+145C>T
ENST00000538324.2:c.239+145C>T	ENSP00000483018.1:n.239+145C>T
ENST00000611156.4:c.239+145C>T	ENSP00000483265.1:n.239+145C>T
NM_020469.2:c.239+145C>T	NP_065202.2:n.239+145C>T
NM_020469.3:c.239+145C>T	NP_065202.2:n.239+145C>T